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Identification and Quantification of Splicing Quantitative Trait Loci

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eQTL Analysis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2082))

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Abstract

Most complex traits, including diseases, have a large genetic component. Identifying the genetic variants and genes underlying phenotypic variation remains one of the most important objectives of current biomedical research. Unlike Mendelian or familial diseases, which are usually caused by mutations in the coding regions of individual genes, complex diseases are thought to result from the cumulative effects of a large number of variants, of which, the vast majority are noncoding. Therefore, to discern the genetic underpinnings of a complex trait, we must first understand the impact of noncoding variation, which presumably affects gene regulation. In this chapter, we outline the recent progress made and methods used to discover putative regulatory regions associated with complex traits. We will specifically focus on mapping splicing quantitative trait loci (sQTL) using Yoruba samples from GEUVADIS as a motivating example.

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Author information

Authors and Affiliations

  1. Committee on Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, IL, USA

    Ankeeta Shah

  2. Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA

    Yang I. Li

  3. Department of Human Genetics, University of Chicago, Chicago, IL, USA

    Yang I. Li

Authors
  1. Ankeeta Shah
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  2. Yang I. Li
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Editor information

Editors and Affiliations

  1. Temple University, Philadelphia, PA, USA

    Xinghua Mindy Shi

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Shah, A., Li, Y.I. (2020). Identification and Quantification of Splicing Quantitative Trait Loci. In: Shi, X. (eds) eQTL Analysis. Methods in Molecular Biology, vol 2082. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-0026-9_4

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  • DOI: https://doi.org/10.1007/978-1-0716-0026-9_4

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-0025-2

  • Online ISBN: 978-1-0716-0026-9

  • eBook Packages: Springer Protocols

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